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    ARFGEF2 ADP ribosylation factor guanine nucleotide exchange factor 2 [ Homo sapiens (human) ]

    Gene ID: 10564, updated on 6-Jun-2017
    Official Symbol
    ARFGEF2provided by HGNC
    Official Full Name
    ADP ribosylation factor guanine nucleotide exchange factor 2provided by HGNC
    Primary source
    HGNC:HGNC:15853
    See related
    Ensembl:ENSG00000124198 MIM:605371; Vega:OTTHUMG00000032687
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    BIG2; PVNH2; dJ1164I10.1
    Summary
    ADP-ribosylation factors (ARFs) play an important role in intracellular vesicular trafficking. The protein encoded by this gene is involved in the activation of ARFs by accelerating replacement of bound GDP with GTP and is involved in Golgi transport. It contains a Sec7 domain, which may be responsible for its guanine-nucleotide exchange activity and also brefeldin A inhibition. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    20q13.13
    Exon count:
    39
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 20 NC_000020.11 (48921721..49036693)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 20 NC_000020.10 (47538250..47653230)

    Chromosome 20 - NC_000020.11Genomic Context describing neighboring genes Neighboring gene phosphatidylinositol-3,4,5-trisphosphate dependent Rac exchange factor 1 Neighboring gene uncharacterized LOC105372648 Neighboring gene CSE1L antisense RNA 1 Neighboring gene synaptosome associated protein 23 pseudogene 1

    • Project title: HPA RNA-seq normal tissues
    • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
    • BioProject: PRJEB4337
    • Publication: PMID 24309898
    • Analysis date: Wed Jun 15 11:32:44 2016

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Protein interactions

    Protein Gene Interaction Pubs
    Vpu vpu HIV-1 Vpu is identified to have a physical interaction with ADP-ribosylation factor guanine nucleotide-exchange factor 2 (ARFGEF2; BIG2) in human HEK293 and/or Jurkat cell lines by using affinity tagging and purification mass spectrometry analyses PubMed

    Go to the HIV-1, Human Interaction Database

    • Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystem (from REACTOME)
      Association of TriC/CCT with target proteins during biosynthesis, organism-specific biosystemTRiC has broad recognition specificities, but in the cell it interacts with only a defined set of substrates (Yam et al. 2008). Many of its substrates that are targeted during biosynthesis are conse...
    • Chaperonin-mediated protein folding, organism-specific biosystem (from REACTOME)
      Chaperonin-mediated protein folding, organism-specific biosystemThe eukaryotic chaperonin TCP-1 ring complex (TRiC/ CCT) plays an essential role in the folding of a subset of proteins prominent among which are the actins and tubulins (reviewed in Altschuler and...
    • Endocytosis, organism-specific biosystem (from KEGG)
      Endocytosis, organism-specific biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Endocytosis, conserved biosystem (from KEGG)
      Endocytosis, conserved biosystemEndocytosis is a mechanism for cells to remove ligands, nutrients, and plasma membrane (PM) proteins, and lipids from the cell surface, bringing them into the cell interior. Transmembrane proteins en...
    • Metabolism of proteins, organism-specific biosystem (from REACTOME)
      Metabolism of proteins, organism-specific biosystemProtein metabolism comprises the pathways of translation, post-translational modification and protein folding.
    • Protein folding, organism-specific biosystem (from REACTOME)
      Protein folding, organism-specific biosystemDue to the crowded envirnoment within the cell, many proteins must interact with molecular chaperones to attain their native conformation (reviewed in Young et al., 2004). Chaperones recognize and...
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • FLJ23723

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    ARF guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    GABA receptor binding ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    guanyl-nucleotide exchange factor activity IDA
    Inferred from Direct Assay
    more info
    PubMed 
    myosin binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein binding IPI
    Inferred from Physical Interaction
    more info
    PubMed 
    protein kinase A regulatory subunit binding IDA
    Inferred from Direct Assay
    more info
    PubMed 
    Process Evidence Code Pubs
    Golgi to plasma membrane transport IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endomembrane system organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    endosome organization IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    exocytosis IEA
    Inferred from Electronic Annotation
    more info
     
    intracellular signal transduction IDA
    Inferred from Direct Assay
    more info
    PubMed 
    positive regulation of GTPase activity IEA
    Inferred from Electronic Annotation
    more info
     
    positive regulation of tumor necrosis factor production IMP
    Inferred from Mutant Phenotype
    more info
    PubMed 
    protein transport IEA
    Inferred from Electronic Annotation
    more info
     
    receptor recycling IDA
    Inferred from Direct Assay
    more info
    PubMed 
    regulation of ARF protein signal transduction IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    Golgi membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    asymmetric synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    axonemal microtubule ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cell junction IEA
    Inferred from Electronic Annotation
    more info
     
    cytoplasmic vesicle ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    cytosol IDA
    Inferred from Direct Assay
    more info
    PubMed 
    dendritic spine ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    membrane IDA
    Inferred from Direct Assay
    more info
    PubMed 
    microtubule organizing center IDA
    Inferred from Direct Assay
    more info
    PubMed 
    perinuclear region of cytoplasm IEA
    Inferred from Electronic Annotation
    more info
     
    recycling endosome IDA
    Inferred from Direct Assay
    more info
    PubMed 
    symmetric synapse ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    trans-Golgi network IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    trans-Golgi network ISS
    Inferred from Sequence or Structural Similarity
    more info
     
    Preferred Names
    brefeldin A-inhibited guanine nucleotide-exchange protein 2
    Names
    ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
    brefeldin A-inhibited GEP 2

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_011490.1 RefSeqGene

      Range
      5001..119956
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_006420.2NP_006411.2  brefeldin A-inhibited guanine nucleotide-exchange protein 2

      See identical proteins and their annotated locations for NP_006411.2

      Status: REVIEWED

      Source sequence(s)
      AB209397, AK074303, AL121903, BC050449
      Consensus CDS
      CCDS13411.1
      UniProtKB/Swiss-Prot
      Q9Y6D5
      UniProtKB/TrEMBL
      Q59FR3, Q86TH5
      Related
      ENSP00000360985.4, OTTHUMP00000031231, ENST00000371917.4, OTTHUMT00000079627
      Conserved Domains (5) summary
      PLN03076
      Location:111711
      PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
      pfam01369
      Location:643827
      Sec7; Sec7 domain
      pfam09324
      Location:11671248
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:370524
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16213
      Location:28198
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...Open this link in a new tab

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000020.11 Reference GRCh38.p7 Primary Assembly

      Range
      48921721..49036693
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_005260252.3XP_005260309.1  brefeldin A-inhibited guanine nucleotide-exchange protein 2 isoform X1

      Conserved Domains (5) summary
      PLN03076
      Location:111710
      PLN03076; ARF guanine nucleotide exchange factor (ARF-GEF); Provisional
      pfam01369
      Location:642826
      Sec7; Sec7 domain
      pfam09324
      Location:11661247
      DUF1981; Domain of unknown function (DUF1981)
      pfam12783
      Location:369523
      Sec7_N; Guanine nucleotide exchange factor in Golgi transport N-terminal
      pfam16213
      Location:28198
      DCB; Dimerization and cyclophilin-binding domain of Mon2

    Alternate CHM1_1.1

    Genomic

    1. NC_018931.2 Alternate CHM1_1.1

      Range
      47442300..47557463
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)
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